Canonical Allele Identifier: CA372788650

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1320261
• ClinVar RCV Id: RCV001775434
• dbSNP Id: rs2130599529
• MyVariant Identifiers: chr9:g.2115844C>G (hg19) ; chr9:g.2115844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115844C>G , CM000671.2:g.2115844C>G	GRCh38
NC_000009.11:g.2115844C>G , CM000671.1:g.2115844C>G	GRCh37
NC_000009.10:g.2105844C>G	NCBI36
NG_032162.1:g.105503C>G
NG_032162.2:g.140555C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3119C>G	ENSP00000515861.1:p.Ala1040Gly
ENST00000704352.1:c.1174-45842C>G	ENSP00000515863.1:n.1174-45842C>G
ENST00000704353.1:c.1174-45842C>G	ENSP00000515864.1:n.1174-45842C>G
ENST00000704354.1:c.3463C>G
ENST00000704355.1:c.1843C>G
ENST00000349721.8:c.3479C>G MANE Select	ENSP00000265773.5:p.Ala1160Gly
ENST00000357248.8:c.3479C>G	ENSP00000349788.2:p.Ala1160Gly
ENST00000635739.1:n.2147C>G
ENST00000636157.1:n.1086C>G
ENST00000638139.1:n.513C>G
ENST00000349721.7:c.3479C>G	ENSP00000265773.5:p.Ala1160Gly
ENST00000357248.7:c.3479C>G	ENSP00000349788.2:p.Ala1160Gly
ENST00000382194.6:c.3479C>G	ENSP00000371629.1:p.Ala1160Gly
ENST00000382203.5:c.3479C>G	ENSP00000371638.1:p.Ala1160Gly
ENST00000450198.6:c.3305C>G	ENSP00000392081.2:p.Ala1102Gly
ENST00000634760.1:c.3479C>G	ENSP00000489256.1:p.Ala1160Gly
ENST00000634772.1:c.62-3614C>G
ENST00000634925.1:n.970C>G
NM_001289396.1:c.3479C>G	NP_001276325.1:p.Ala1160Gly
NM_001289397.1:c.3305C>G	NP_001276326.1:p.Ala1102Gly
NM_003070.4:c.3479C>G	NP_003061.3:p.Ala1160Gly
NM_139045.3:c.3479C>G	NP_620614.2:p.Ala1160Gly
NM_003070.5:c.3479C>G MANE Select	NP_003061.3:p.Ala1160Gly
NM_001289397.2:c.3305C>G	NP_001276326.1:p.Ala1102Gly
NM_139045.4:c.3479C>G	NP_620614.2:p.Ala1160Gly